The Genetics of Pemphigus Vulgaris

Vodo, Dan; Sarig, Ofer; Sprecher, Eli

doi:10.3389/fmed.2018.00226

Cited by 65 publications

(76 citation statements)

References 83 publications

(87 reference statements)

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“…Three HLA haplotypes were identified: one associated with PV, one with PF and one with both subtypes. This GWAS, performed in a Chinese population, together with recent genetic studies in other populations, highlights the complex associations between HLA and pemphigus …”

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confidence: 73%

“…An enlarging body of evidence supports a genetic basis in pemphigus that may explain the population‐specific epidemiology of the disease. Numerous studies have explored genetic susceptibility to pemphigus using candidate‐gene‐driven approaches that look for variants in genes thought to be involved in disease pathogenesis . The genome‐wide association study (GWAS), meanwhile, is a hypothesis‐free search strategy that identifies disease‐associated genetic variants or single‐nucleotide polymorphisms (SNPs) across the genome.…”

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confidence: 99%

“…The genome‐wide association study (GWAS), meanwhile, is a hypothesis‐free search strategy that identifies disease‐associated genetic variants or single‐nucleotide polymorphisms (SNPs) across the genome. A large cohort of patients is required for results in this approach to reach statistical significance …”

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confidence: 99%

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Unfolding the genetic basis of pemphigus

Geller

2019

Br J Dermatol

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References1 Theut Riis P, Pedersen OB, Sigsgaard V et al. Prevalence of patients with self-reported hidradenitis suppurativa in a cohort of Danish blood donors: a cross-sectional study. Br J Dermatol 2019; 180:774-81. 2 Jemec GB, Kimball AB. Hidradenitis suppurativa: epidemiology and scope of the problem. J Am Acad Dermatol 2015; 73:S4-7. 3 Revuz JE, Canoui-Poitrine F, Wolkenstein P et al. Prevalence and factors associated with hidradenitis suppurativa: results from two casecontrol studies. J Am Acad Dermatol 2008; 59:596-601. 4 Grant A, Gonzalez T, Montgomery MO et al. Infliximab therapy for patients with moderate to severe hidradenitis suppurativa: a randomized, double-blind placebo controlled crossover trial. J Am Acad Dermatol 2010; 62:205-17. 5 Sartorius K, Emtestam L, Jemec GB, Lapins J. Objective scoring of hidradenitis suppurativa reflecting the role of tobacco smoking and obesity. Br J Dermatol 2009; 161:831-9. 6 Jemec GB, Heidenheim M, Nielsen NH. The prevalence of hidradenitis suppurativa and its potential precursor lesions. J Am Acad Dermatol 1996; 35:191-4. 7 Cosmatos I, Matcho A, Weinstein R et al. Analysis of patient claims data to determine the prevalence of hidradenitis suppurativa in the United States. J Am Acad Dermatol 2017; 68:412-19. 8 Shalom G, Babaev M, Freud T et al. Demographic and health care service utilization by 4417 patients with hidradenitis suppurativa. J Am Acad Dermatol 2017; 77:e2.

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Unfolding the genetic basis of pemphigus

Geller

2019

Br J Dermatol

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“…The prevalence of PV is reported to be 0.1-0.5/100,000 population individuals, with higher rates in several ethnic groups including individuals of Caucasian, Jewish, and Mediterranean ancestry. 2,3 Studies report prevalence rates of PV to be as high as 10/million in the Iranian population, whereas lower prevalence rates are reported in African and Asian populations (2.9 and 4.7 cases/million, respectively). 4 The prevalence of PV in Hispanic, African, and Asian populations has not been well documented to date, which may negatively impact diagnosis and management of these patients.…”

Section: Pemphigus Vulgaris In Racial Minorities: An Observational Studymentioning

confidence: 99%

Pemphigus vulgaris in racial minorities: an observational study

et al. 2020

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“…PV is an immune blistering disease, but little is known about the role of these genes and related polymorphism in PV susceptibility . Up to date, only the attenuation of pro‐inflammatory cytokines by blocking NF‐κB–mediated pathways was documented, which inhibited the pathogenesis of PV by suppressing oxidative stress and apoptosis in human keratinocytes .…”

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confidence: 99%

Association of NFKB1 ‐94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris

Chatzikyriakidou

Kyriakou

Meltzanidou

et al. 2019

Experimental Dermatology

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Pemphigus is a group of autoimmune diseases that affect the skin and the mucous membranes. Several subtypes of pemphigus have been identified, based on clinical and histologic features as well as on the specific antigens targeted by circulating autoantibodies.Pemphigus vulgaris (PV) is the most prevalent type of pemphigus, comprising up to 70% of all cases of pemphigus. [1] PV is characterized by acantholysis and intraepidermal blister formation, resulting from IgG autoantibodies directed against transmembrane desmosomal glycoprotein desmoglein 3 and in some cases desmoglein 1. [2,3] However, many immunological steps are required prior to autoantibody production that is the key to the development of blisters in pemphigus.Interleukin-1 receptor-activated kinases (IRAKs) are key mediators in the IRAK1/NF-κB signalling pathway. IRAK1 plays a significant role in NF-κB activation, which subsequently increases the expression of many genes related to immunological reactions. [4,5] NF-kB is inactivated by cytoplasmic trapping through IkB proteins (eg NFKBIA). Phosphorylation of serine residues on the I kappa B proteins, by kinases, marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kB. AbstractPemphigus vulgaris is a rare chronic blistering skin disease resulting from IgG autoantibodies directed against transmembrane desmosomal glycoprotein desmoglein 3 and is the most common form of pemphigus. Since interleukin-1 receptor-associated kinase (IRAK-1)/nuclear factor-kappa B (NF-kappa B) pathway plays an essential role in the pathogenesis of autoimmune diseases, the aim of the present study was to explore the role of polymorphisms in three genes, named IRAK1 (rs3027898), NFKBIA (rs696) and NFKB1 (-94ATTG insertion/deletion variant, -rs28362491), in PV susceptibility. Forty-four unrelated patients with PV (23 males) were enrolled in the study.Additionally, 77 ethnic matching healthy volunteers (45 males) with no personal or family history of chronic autoimmune or infectious diseases were studied. Strong statistical significant difference was observed between PV patients and controls for polymorphism -94 insertion/deletion ATTG in the promoter region of NFKB1 gene (P = 0.00005). Additional dedicated studies in larger groups of patients of various ethnicities are needed to replicate and confirm the preliminary findings. K E Y W O R D S IRAK1, NFKB1, NFKBIA, pemphigus vulgaris, polymorphism | 973 CHATZIKYRIAKIDOU eT Al. P-value 0.33353 0.00005 0.2844 Alleles Alleles Alleles C A Ins Del G A Male PV patients (n = 23) 5 18 PV patients (n = 88) 63 25 45 43 Male Controls (n = 45) 17 28 Controls (n = 154) 75 79 86 68 P-value 0.186 P-value 0.0006 0.480 OR, 95% CI 0.476 (0.144-1.459) OR, 95% CI 2.65 (1.515-4.651) 0.828 (0.489-1.399) Genotypes CC AC AA Female PV patients (n = 21) 1 11 9 Female Controls (n = 32) 2 15 15 P-value (Yates' correction) 0.932 The authors have declared no conflicting interests. AUTH O R CO NTR I B UTI O N AC had the concept and designed the study, performed the rese...

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The Genetics of Pemphigus Vulgaris

Cited by 65 publications

References 83 publications

Unfolding the genetic basis of pemphigus

Unfolding the genetic basis of pemphigus

Pemphigus vulgaris in racial minorities: an observational study

Association of NFKB1 ‐94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris

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